Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.
D002675:Child, Preschool; D005732:Gangliosides / Q000378:metabolism; D006017:Glycolipids / Q000378:metabolism*; D006026:Glycoside Hydrolases / Q000378:metabolism*; D006595:Hexosamines / Q000378:metabolism*; D006801:Humans; D007668:Kidney / Q000378:metabolism* / Q000473:pathology; D008064:Lipidoses / Q000201:enzymology* / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D013154:Spleen / Q000473:pathology
D005732:Gangliosides; D006017:Glycolipids; D006595:Hexosamines; D006026:Glycoside Hydrolases